Lecture 12: Personal Genomics and precision medicine Flashcards
What is personalised medicine?
a move away from the ‘one size fits all’ approach to the treatments and care of patients with a particular condition, to one which uses new approaches to better manage patients’ health and target therapies to achieve the best outcomes in the management of a patient’s disease or disposition to disease.
What are the benefits of genomics in healthcare?
By combining and analysing information about our genome, with clinical and diagnostic information and then comparing that with data from others, patterns can be identified and diseases better understood.
What is our health determined by?
Our health is determined by our inherited genetic differences combined with our lifestyle choices and other environmental factors.
Describe the human genome
The human genome is spread over 46 chromosomes (23 for each parent) and contains roughly 6 billion base pairs (bp).
What are genes for particular proteins switched on and expressed?
Genes are switched-on (expressed) only when they are needed.
What is an SNP?
Single Nucleotide Polymorphism: a difference at one base position.
How is genomics being used to judge disease severity and possible treatment groups?
Genomics can separate a disease into different distinct subtypes (disease stratification), which can breakdown individuals into severity categories and also streamline them to more beneficial and targeted treatments options based on their subtype of a particular disease.
Why is personalised medicine useful?
- Targeted therapies
- Improved population health
- Early disease detection
- Improved clinical outcomes
- Targeted disease prevention
- Cutting edge research and applied science.
- Accelerated diagnosis
- Improved efficiency and sustainability of service delivery.
How can personalised medicine be used to generate targeted therapies?
Identification of exact disease and identification of drugs which the body may not respnd to, can hep streamline treatment options. Intelligent treatment pathways informed by personalised assessment of clinical effectiveness and adverse drug reactions.
How can personalised medicine be used to aid early disease detection?
Diseases detected 2-8 years before onset and symptoms become obvious by looking at the individuals genomic data, and the likely predispositions it may expose.
How can personalised medicine be used to provide targeted disease prevention?
Identification of predisposition markers or underlying processes to predict future disease.
How can personalised medicine be used to provide accelerated diagnosis?
Diagnosis based on underlying cause and incidental findings, rather than just grouped symptoms.
What is epigenetics?
Epigenetics is the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself.
What does epigenetics explain?
Explains how gene expression is altered through DNA methylation and histone modification of the genetic code, likely due to environmental exposures that can result in disease
How do gene modifications due to the environment affect the gene expression?
Modification affects expression and not the genetic code that is translated; explains why people with the same genes have different likelihoods of developing certain diseases.
